Canonical Allele Identifier: CA1202687937
Gene: MPZ HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.161305963A= , CM000663.2:g.161305963A= GRCh38
NC_000001.10:g.161275753A= , CM000663.1:g.161275753A= GRCh37
NC_000001.9:g.159542377A= NCBI36
NG_008055.1:g.9010T= , LRG_256:g.9010T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000526189.3:c.579T= ENSP00000488104.2:p.Tyr193=
ENST00000533357.5:c.660T= MANE Select ENSP00000432943.1:p.Tyr220=
ENST00000672287.2:c.72T= ENSP00000499818.2:p.Tyr24=
ENST00000672602.2:c.660T= ENSP00000500814.2:p.Tyr220=
ENST00000674861.1:n.723T=
ENST00000463290.5:c.660T= ENSP00000431538.1:p.Tyr220=
ENST00000476410.1:n.250T=
ENST00000488271.1:n.98T=
ENST00000491222.5:c.72T= ENSP00000431441.1:p.Tyr24=
ENST00000526189.2:c.323T=
ENST00000533357.4:c.660T= ENSP00000432943.1:p.Tyr220=
NM_000530.6:c.660T= , LRG_256t1:c.660T= NP_000521.2:p.Tyr220=
NM_000530.7:c.660T= NP_000521.2:p.Tyr220=
NM_001315491.1:c.660T= NP_001302420.1:p.Tyr220=
XM_017001321.2:c.675+145T= XP_016856810.1:n.675+145T=
NM_000530.8:c.660T= MANE Select NP_000521.2:p.Tyr220=
NM_001315491.2:c.660T= NP_001302420.1:p.Tyr220=